Results 101 to 110 of about 7,107 (122)

Identification of Novel Pathways Associated with Patterned Cerebellar Purkinje Neuron Degeneration in Niemann-Pick Disease, Type C1. [PDF]

Int J Mol Sci, 2019
Martin KB, Williams IM, Cluzeau CV, Cougnoux A, Dale RK, Iben JR, Cawley NX, Wassif CA, Porter FD.   +8 more
europepmc   +1 more source

Main Olfactory and Vomeronasal Epithelium Are Differently Affected in Niemann-Pick Disease Type C1. [PDF]

Int J Mol Sci, 2018
Witt M, Thiemer R, Meyer A, Schmitt O, Wree A.   +4 more
europepmc   +1 more source

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Structural Insight into Eukaryotic Sterol Transport through Niemann-Pick Type C Proteins

Cell, 2019
Stephen Muench, Bjørn Panyella Pedersen, Shaun Rawson   +2 more
exaly  

Methyl-β-cyclodextrin restores impaired autophagy flux in Niemann-Pick C1-deficient cells through activation of AMPK

Autophagy, 2017
Forbes D Porter, Christopher A Wassif
exaly  

Niemann–Pick C disease in Spain: Clinical spectrum and development of a disability scale

Journal of the Neurological Sciences, 2006
Mercè Pineda i Marfà, Marie T Vanier, M T Vanier   +2 more
exaly  

Acid sphingomyelinase deficiency: Prevalence and characterization of an intermediate phenotype of Niemann-Pick disease

Journal of Pediatrics, 2006
Robert J. Desnick, Scott E Brodie, Melissa P Wasserstein   +2 more
exaly  

Systematic review of psychiatric signs in Niemann-Pick disease type C

World Journal of Biological Psychiatry, 2019
Mark Walterfang, Olivier Bonnot, Hans-Hermann Klünemann   +2 more
exaly  

Biochemical studies in niemann-pick disease I. Major sphingolipids of liver and spleen

Lipids and Lipid Metabolism, 1983
Marie T Vanier
exaly  

3.3 Å structure of Niemann–Pick C1 protein reveals insights into the function of the C-terminal luminal domain in cholesterol transport

Proceedings of the National Academy of Sciences of the United States of America, 2017
Joachim Seemann, Philip Schmiege, Jiawei Wang   +2 more
exaly  

Quantitation of plasmatic lysosphingomyelin and lysosphingomyelin-509 for differential screening of Niemann-Pick A/B and C diseases

Analytical Biochemistry, 2017
Befekadu Asfaw, Helena Jahnová, Jana Ledvinová   +2 more
exaly